A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.

Justyna A KarolakTomasz GambinEngela M HoneyTomas SlavikEdwina PopekPrzemyslaw Szafranski

Published in: BMC medical genomics (2020)

Our findings further support a recently reported model of complex compound inheritance of LLDD in which both non-coding and coding heterozygous TBX4 variants contribute to the lung phenotype. In addition, this is the first report of a patient with combined de novo heterozygous recurrent 17q23.1q23.2 and 16p11.2 CNV deletions.

Keyphrases

pulmonary hypertension
early onset
mitochondrial dna
case report
copy number
pulmonary artery